Cockayne Syndrome
What's New
Last Posted: Sep 03, 2024
- Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis.
Daisuke Watanabe, et al. Scientific reports 2024 0 (1) 19741 - DNA Damage-Induced Neurodegeneration in Accelerated Ageing and Alzheimer's Disease.
Wang Heling et al. International journal of molecular sciences 2021 22(13) - Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
Wang Xiaozhu, et al. Scientific reports 2017 10 (1) 13686 - Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
Reid-Bayliss Kate S, et al. Proceedings of the National Academy of Sciences of the United States of America 2016 8 - XAB2 tagSNPs contribute to non-small cell lung cancer susceptibility in Chinese population.
Pei Na, et al. BMC cancer 2015 0 (1) 560 - Xeroderma pigmentosum complementation group C single-nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression-free survival in advanced ovarian cancer.
Fleming Nicole D, et al. Cancer 2012 2 (3) 689-97 - Cockayne syndrome
From NCATS Genetic and Rare Diseases Information Center - Cockayne syndrome type I
From NCATS Genetic and Rare Diseases Information Center - Cockayne syndrome type II
From NCATS Genetic and Rare Diseases Information Center - Cockayne syndrome type III
From NCATS Genetic and Rare Diseases Information Center - High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.
Khayat Morad, et al. American journal of medical genetics. Part A 2010 12 (12) 3091-4 - The ERCC6 gene and age-related macular degeneration.
Baas Dominique C, et al. PloS one 2010 0 (11) e13786 - ERCC6/CSB gene polymorphisms and lung cancer risk.
Ma Hongxia, et al. Cancer letters 2009 1 (1) 172-6 - Association between common genetic variation in Cockayne syndrome A and B genes and nucleotide excision repair capacity among smokers.
Leng Shuguang, et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008 8 (8) 2062-9 - A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer.
Lin Zhongning, et al. Human mutation 2008 1 (1) 113-22 - Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients.
Le Morvan Valérie, et al. International journal of cancer. Journal international du cancer 2006 10 (7) 1732-5 - Assessment of nucleotide excision repair XPD polymorphisms in the peripheral blood of gemcitabine/cisplatin-treated advanced non-small-cell lung cancer patients.
Camps Carlos, et al. Clinical lung cancer 2003 1 (4) 237-41 - Influence of genetic markers on survival in non-small cell lung cancer.
Rosell Rafael, et al. Drugs of today (Barcelona, Spain : 1998) 2003 10 (10) 775-86 - Associations between ERCC2 polymorphisms and gliomas.
Caggana M, et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2001 4 (4) 355-60
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
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- Microcephaly
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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